Product Name
CLCN1, cDNA Clone
Full Product Name
CLCN1 cDNA Clone
Product Gene Name
CLCN1 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atggagcaat cccggtcaca gcagcgtggg ggtgaacaaa gctggtgggg tagtgacccc cagtaccagt atatgccctt tgaacactgc accagctacg gactgccctc tgagaatggg ggcctccagc acaggctccg gaaggatgca ggcccccgcc acaacgtcca ccccacacag atttatggcc atcacaaaga acaattctca gacagggagc aggacatagg gatgcccaag aagacaggct ccagttctac cgtggacagc aaggatgagg atcactattc taaatgtcaa gattgtatcc accgcctggg acaggtggtg agaagaaaat taggggaaga ctggatcttt ctggtgcttc tgggactgct gatggctctg gtcagctgga gcatggacta cgtcagtgcc aaaagccttc aggcctacaa gtggtcctac gcgcagatgc agcccagcct tcctctgcag ttcctggtct gggtcacctt cccactagtc ctcatcctct tcagcgccct cttctgccac ctcatctctc cccaggctgt tggctctgga atccccgaaa tgaagacaat acttcgtggg gttgtcctga aggaatacct cacaatgaaa gcctttgtgg ccaaggttgt cgccctgact gcgggcctgg gcagtggcat ccccgtgggg aaagagggcc ccttcgtcca cattgccagc atctgtgctg ctgtcctcag caaattcatg tctgtgttct gcggggtata tgagcagcca tactactact ctgatatcct gacggtgggc tgtgctgtgg gagtcggctg ttgttttggg acaccacttg gaggagtgct atttagcatc gaggtcacct ccacctactt tgctgttcgg aactactgga gaggattctt tgcagccacg ttcagcgcct ttgtgtttcg agtgctggca gtgtggaaca aggatgctgt caccatcact gctctgttca gaaccaattt ccgaatggat ttcccctttg acctgaagga actaccagct tttgctgcca tcgggatttg ctgtgggctc ctgggagctg tatttgtgta tctgcatcgc caagtcatgc tcggtgtccg aaagcacaag gccctcagcc agtttcttgc taagcaccgc ctgctgtatc ctggaattgt tacctttgtc attgcctcat tcaccttccc accaggaatg ggtcaattca tggctggaga gttgatgccc cgcgaagcca tcagtacttt gtttgacaac aatacatggg tgaaacacgc gggtgatcct gagagcctgg gccagtcagc tgtgtggatt cacccccggg tcaacgttgt catcatcatc tttctcttct tcgtcatgaa gttctggatg tccatcgtgg ccaccactat gcccataccc tgcggaggct tcatgcctgt gtttgtgcta ggagctgcat ttggaaggct ggtaggagaa atcatggcca tgctctttcc tgatggtatt ttgtttgatg acatcatcta caagatccta cctgggggct atgcagtaat tggagcagca gcgctgactg gtgccgtttc ccacacagtc tccacagctg tgatttgctt cgaattaacg ggtcagattg ctcacatcct gcccatgatg gtggctgtta tcttggccaa catggtggcc cagagcctgc agccctctct ctatgacagc atcatccagg tcaagaagct accctacttg cctgaccttg gctggaacca gctcagcaaa tataccatct ttgttgagga catcatggta cgtgatgtga agtttgtttc agcttcttac acatatgggg agttgcgaac cctgctccag accaccacag tcaagacttt accactggtt gactcaaaag attcaatgat cctgctgggc tcggtggagc ggtcggaact gcaggccctc ctgcagcgcc acctgtgtcc tgagcgcagg ctgcgcgcag cccaagagat ggcgcggaag ttgtcggagc tgccttacga cgggaaggcg cggctggctg gggaggggct ccccggcgcg cctccaggcc ggcccgagtc cttcgccttt gtggatgagg atgaggacga agatctctct ggcaagagcg agcttcctcc ttcccttgct ctccacccct ctactactgc ccctctgtcc ccagaagagc ccaatgggcc tctgcctggc cacaaacagc agccggaagc accagagcct gcaggtcaaa gaccctccat cttccagtcc ctgcttcact gcttgctggg cagagctcgc cccacaaaga agaaaacaac ccaggattcc acagatttag tggataacat gtcacctgaa gagattgagg cctgggagca ggagcagctg agccagcctg tctgttttga ttcctgctgt attgaccagt ctcccttcca gctggtggag cagacaaccc tgcacaagac tcataccctg ttttcactcc ttggcctcca cctcgcttac gtgaccagca tggggaagct caggggcgtc ctggccctgg aggagctaca gaaggccatt gaggggcaca ccaagtctgg ggtgcagctc cgccctcccc ttgccagctt ccggaacacg acttcaactc gaaagagtac cggggcacct ccatcttctg cagagaactg gaacctgcct gaggacaggc ctggggccac tggaacaggg gatgtgattg ctgcctcccc agagacccct gtgccatctc cttccccaga gccccctctc tccctggccc caggcaaggt agagggcgag ttggaggagc tggagctggt ggagagtcca gggctggaag aggagctggc cgacatcttg cagggcccca gcctgcgatc cacagacgag gaggatgagg atgaactgat cctttga
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of CLCN1 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for CLCN1. It may not necessarily be applicable to this product.
NCBI Accession #
BC113495
[Other Products]
UniProt Secondary Accession #
Q2M202; A4D2H5[Other Products]
UniProt Related Accession #
P35523[Other Products]
Molecular Weight
108,626 Da
NCBI Official Full Name
Homo sapiens chloride channel 1, skeletal muscle, mRNA
NCBI Official Synonym Full Names
chloride voltage-gated channel 1
NCBI Official Symbol
CLCN1??[Similar Products]
NCBI Official Synonym Symbols
CLC1
??[Similar Products]
NCBI Protein Information
chloride channel protein 1
UniProt Protein Name
Chloride channel protein 1
UniProt Synonym Protein Names
Chloride channel protein, skeletal muscle
Protein Family
Chloride channel protein
UniProt Gene Name
CLCN1??[Similar Products]
UniProt Synonym Gene Names
CLC1; ClC-1??[Similar Products]
UniProt Entry Name
CLCN1_HUMAN
NCBI Summary for CLCN1
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
UniProt Comments for CLCN1
CLCN1: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. Defects in CLCN1 are the cause of Thomsen disease (THD); also known as autosomal dominant myotonia congenita (MCD). THD is characterized by skeletal muscle stiffness (delayed relaxation), due to membrane hyperexcitability. A variant form of Thomsen disease is myotonia levior that is characterized by milder symptoms, later onset and absence of muscle hypo- and hypertrophy. Defects in CLCN1 are the cause of autosomal recessive myotonia congenita (MCR); also known as Becker disease. Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily.
Protein type: Channel, chloride; Transporter, ion channel; Transporter; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 7q35
Cellular Component: integral to plasma membrane; plasma membrane
Molecular Function: chloride ion binding; protein binding; protein homodimerization activity; voltage-gated chloride channel activity
Biological Process: muscle contraction
Disease: Myotonia Congenita, Autosomal Dominant; Myotonia Congenita, Autosomal Recessive
Research Articles on CLCN1
1. Three novel mutations including 2 missense and one splicing were found in myotonia congenita patients.
Precautions
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Disclaimer
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